Ontology highlight
ABSTRACT:
SUBMITTER: Block GJ
PROVIDER: S-EPMC3820129 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Block Gregory J GJ Narayanan Divya D Amell Amanda M AM Petek Lisa M LM Davidson Kathryn C KC Bird Thomas D TD Tawil Rabi R Moon Randall T RT Miller Daniel G DG
Human molecular genetics 20130702 23
Facioscapulohumeral muscular dystrophy is a dominantly inherited myopathy associated with chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4. DUX4 is encoded within each unit of the D4Z4 array where it is normally transcriptionally silenced and packaged as constitutive heterochromatin. Truncation of the array to less than 11 D4Z4 units (FSHD1) or mutations in SMCHD1 (FSHD2) results in chromatin relaxation and a small percentage of cultured myoblasts from these individuals exhi ...[more]